Searchable abstracts of presentations at key conferences in endocrinology

ea0055oc4 | National Clinical Cases | SFEEU2018

Management of massive (up to 550 mm) bilateral adrenal masses in a non-adherent patient with 21-hydroxylase deficiency congenital adrenal hyperplasia:complex risk benefit analysis

Waterhouse Jasmin , Parvanta Laila , Akker Scott , Berney Dan , Lawrence Victor

Case history: We report a 38 year-old Caucasian woman with classical salt wasting congenital adrenal hyperplasia (CAH) who increasingly omitted medication in adolescence and eventually spent over 10 years without any adrenal replacement therapy or adrenal crises and became lost to follow up. When seen, she complained of increasing abdominal girth, fatigue, hirsutism, had type 2 diabetes, had never had a romantic/sexual relationship and was amenorrhoeic. Examination revealed ab...

ea0038p154 | Neoplasia, cancer and late effects | SFEBES2015

Adrenal pigmentation in PPNAD is a result of melanin deposition and associated with upregulation of the melanocortin 1 receptor

Cavlan Dominic , Storr Helen , Berney Dan , Evagora Chris , King Peter

Primary pigmented nodular adrenal disease (PPNAD) is a form of bilateral adrenocortical hyperplasia characterised by small to normal sized adrenal glands containing multiple small cortical pigmented nodules1. It may occur independently, but 90% of cases are a manifestation of the Carney complex. Most cases of PPNAD are diagnosed before age 30, and are the result of a germline mutation in PRKAR1A or PDE11A, leading to upregulation of cAMP signalling. It is a cause of...

ea0028p112 | Clinical practice/governance and case reports | SFEBES2012

Intrathyroidal parathyroid carcinoma: Putting the pieces together

Sivarajah Vernon , Anderson John , Berney Dan , Parvanta Laila

Parathyroid carcinoma (PTC) is a rare condition that lacks pathognomonic features, making diagnosis and therefore management challenging. In the very few cases of intra-thyroidal PTC reported, failure to achieve a pre-operative diagnosis has often led to unnecessary bilateral neck exploration and re-operation. We describe for the first time a case of intra-thyroidal PTC suspected pre-operatively. A 37-year-old Bangladeshi man presented with a 3-week history of mood changes, mu...

ea0015p80 | Clinical practice/governance and case reports | SFEBES2008

An unusually large thyroglossal cyst harbouring a papillary thyroid cancer

Parvanta Laila , Berney Dan , Richards Polly , Akker Scott , Carpenter Robert

A 24-year-old girl was referred with a massive thyroglossal duct cyst (TGDC) and an intra-cystic papillary thyroid cancer (PTC). The impressive clinical photographs, striking radiological images and histology slides are presented.She presented eight and half months post partum with a 10 cm midline neck lump of 4 years duration. She was asymptomatic and was on levothyroxine for HashimotoÂ’s thyroiditis.Clinically, there was a cy...

ea0044p156 | Neuroendocrinology and pituitary | SFEBES2016

The role of the microenvironment in the invasive phenotype of familial pituitary tumours

Barry Sayka , Carlsen Eivind , Gadaleta Emanuela , Berney Dan , Chelala Claude , Crnogorac-Jurcevic Tatjana , Korbonits Marta

Background: Patients with heterozygote germline mutations in the aryl-hydrocarbon receptor interacting protein (AIP) gene (AIPpos) develop often aggressively growing tumours in early teenage years. The mechanism of this behaviour is not clear.Aim: The role of the microenvironment in the invasive phenotype of AIPpos pituitary tumours.Methods and results: We established that AIPpos GH-secreting tumours are infiltrated by a large numb...

ea0041ep32 | Adrenal cortex (to include Cushing's) | ECE2016

Adrenal pigmentation in PPNAD is a result of melanin deposition and associated with upregulation of the melanocortin 1 receptor

Cavlan Dominic , Evagora Chris , Berney Dan , Storr Helen , Drake Will , King Peter

Primary pigmented nodular adrenal disease (PPNAD) is a form of bilateral adrenocortical hyperplasia characterised by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. It may occur independently, but 90% of cases are a manifestation of the Carney complex. Most cases of PPNAD are diagnosed before age 30, and are the result of a germline mutation in PRKAR1A or PDE11A, leading to upregulation of cAMP signalling. It is a cause of ACTH-indepe...

ea0050p274 | Neuroendocrinology and Pituitary | SFEBES2017

A comprehensive analysis of the AIP mutation positive pituitary tumour microenvironment: role of stromal cells and the pro-inflammatory cytokine network

Barry Sayka , Solomou Antonia , Vignola L , Collier David , Carlsen Eivind , Gadaleta Emanuela , Berney Dan M , Chelala Claude , Crnogorac-Jurcevic Tatjana , Gaston-Massuet Carles , Korbonits Marta

Introduction: The tumour microenvironment significantly influences tumour behaviour. Little is known about the pituitary adenoma microenvironment. AIP mutation positive (AIPpos) patients develop often aggressively growing pituitary tumours and the study of their microenvironment might identify factors leading to this aggressive phenotype which could help predict tumour behaviour and identify novel therapeutic targets.</p...

ea0050p274 | Neuroendocrinology and Pituitary | SFEBES2017

A comprehensive analysis of the AIP mutation positive pituitary tumour microenvironment: role of stromal cells and the pro-inflammatory cytokine network

Barry Sayka , Solomou Antonia , Vignola L , Collier David , Carlsen Eivind , Gadaleta Emanuela , Berney Dan M , Chelala Claude , Crnogorac-Jurcevic Tatjana , Gaston-Massuet Carles , Korbonits Marta

Introduction: The tumour microenvironment significantly influences tumour behaviour. Little is known about the pituitary adenoma microenvironment. AIP mutation positive (AIPpos) patients develop often aggressively growing pituitary tumours and the study of their microenvironment might identify factors leading to this aggressive phenotype which could help predict tumour behaviour and identify novel therapeutic targets.</p...

ea0015p192 | Endocrine tumours and neoplasia | SFEBES2008

AIP: a protein mutated in familial acromegaly plays a role in the regulation of cell proliferation and shows cell-type specific subcellular localisation

Leontiou Chrysanthia A , Gueorguiev Maria , Hassan Sevda , van der Spuy Jacqueline , Lolli Francesca , Stolbrink Maria , Christian Helen , Wray Jennifer , Bishop-Bailey David , Berney Dan M , Frohman Lawrence A , Chapple Paul J , Grossman Ashley B , Korbonits Marta

Mutations in AIP have been identified in a significant proportion of families with pituitary adenomas, most commonly in familial acromegaly. However, no data are available about the pituitary expression of AIP and how lack of AIP is involved in tumorigenesis.We identified 10 kindreds with AIP mutations out of 31 families. We studied RNA and protein expression of AIP in normal as well as familial and sporadic pituitary adenomas. In the normal pituitary st...

ea0077oc4.2 | Adrenal and Cardiovascular | SFEBES2021

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Argentesi Giulia , Azizan Elena , Zhou Junhua , Cabrera Claudia , O’Toole Sam , Wu Xilin , Goodchild Emily , Cottrell Emily , Marker Alison , Senanayake Russell , Garg Sumedha , Jordan Suzanne , Berney Dan , Gluck Anna , Lines Kate , Thakker Rajesh V , Tuthill Antoinette , Joyce Caroline , Karet Frankl Fiona , Metherell Lou , Teo Ada , Gurnell Mark , Parvanta Laila , Drake William , Wozniak Eva , Mein Chaz , Kinsler Veronika , Storr Helen , Brown Morris

Most aldosterone-producing adenomas (APAs) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell-clusters of normal adrenals could suggest the existence of co-driver mutations which influence the development or phenotype of APAs [1]. Gain-of-function mutations in both CTNNB1 and the G-protein coupled receptor GNA11 were found by whole exome sequencing in 3/10 APAs. Further sequencing of...